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Sunday, September 27, 2015

All Ashkenazi Jewish women should be tested, because we have it at least 10 times the rate of the rest of the population: Up to one in 400 women is BRCA-positive, as opposed to one in 40 Ashkenazi Jews...

The Breast Cancer Gene and Me

I DID not know I have the BRCA mutation. I did not know I would likely get breast cancer
when I was still young, when the disease is a wild animal. I caught it
fast and I acted fast, but I must have looked away: By the time of my
double mastectomy, the cancer had spread to five lymph nodes.

I had eight rounds of the strongest chemotherapy
there is for breast cancer. Two months later, my body still tingles
from the blast. My insides are shimmering. I am reconfigured.

I
have six weeks of daily radiation coming up. I have scans all the time.
I have waiting rooms in my future, full of Golf Digest and Time from
four months ago and that same issue of W that’s always there. I have
waiting ahead. If you don’t like waiting, cancer is not for you.

I
could have avoided all this if I had been tested for the BRCA mutation.
All Ashkenazi Jewish women should be tested, because we have it at
least 10 times the rate of the rest of the population: Up to one in 400
women is BRCA-positive, as opposed to one in 40 Ashkenazi Jews.

It seems I am the designated driver at my Seder table.

I
could have had a mastectomy with reconstruction and skipped the part
where I got cancer. I feel like the biggest idiot for not doing so.

The statistics vary wildly, but they are scary at the low end: According to a 2012 article
in the Journal of Clinical Oncology, the lifetime breast cancer risk
for BRCA carriers is between 56 and 84 percent. From where I am, if you
are BRCA-positive, you get breast cancer — because, voilà.

All
I know is I have the BRCA mutation most unexpectedly, and, still in my
40s, I had the kind of cancer that meant three surgeries in six months.

I
did not know I was a carrier because I do not fall within testing
parameters. Most insurance companies cover testing specifically for
Ashkenazi Jewish women only once we present with breast cancer.
Before that doomed moment, testing is only for women who have a family
history of BRCA or who have had breast cancer at a young age, or who
have close relatives with the disease.

But that is not how mutations operate. They are sneaky.

I
could not have guessed I am BRCA-positive. My mother has not had breast
cancer, nor has her sister, nor did her mother. My first cousin — my
mother’s sister’s daughter — did have breast cancer at the same age as I
did, but not as a result of BRCA.

I
did not think of my father in this situation, or perhaps I did not
think of my father at all, as I last saw him in 2001. At the time he
told me to beware of gum disease, and maybe something else. But I know
his mother lived to be an old woman, and she did not die of breast or
any other cancer, and my father made no mention of anything going wrong
with his sister.

A 2009 Genetics in Medicine
study of Ashkenazi women with breast cancer in New York found that
about 10 percent carried the BRCA gene — but of these, only 50 percent
“had any family history of breast cancer among the first or the second
degree relatives.”

I
assume that the BRCA mutation comes from my father’s father, and after a
couple of generations of silence, it expressed itself through me. This
happens frequently. Which is why insurers should cover BRCA testing for
all Ashkenazi Jewish women. Protocols for health care professionals must
be amended.

“A
large percentage of women who have the gene would not have been
eligible to be tested,” said Elisa Port, chief of breast surgery at
Mount Sinai Medical Center, co-director of the Dubin Breast Center and
author of “The New Generation Breast Cancer Book.”

“Anyone
can be tested if you are willing to pay for it,” she told me. “For most
insurance companies, you cannot get tested just on the basis of being
an Ashkenazi Jew. Now the push is toward testing Ashkenazi Jews, because
the hit rate is above 2 percent.”

The science is ahead of policy: A University of California, Los Angeles, study published this month
found that for every 10,000 Ashkenazi Jewish women tested, 62 breast
cancers are averted. In Dr. Port’s view, all women of Ashkenazi Jewish
descent should get tested, because “every BRCA patient that develops
breast cancer is a failure of prevention.”

According to Force,
an advocacy group concerned with hereditary breast and ovarian cancers,
an estimated 90 percent of BRCA carriers do not know that they are.
That means untold thousands of people in the United States don’t realize
they are likely to get a bad case of breast cancer.

The
BRCA mutation entered the Jewish community in Poland some 500 years
ago, and because the Jews of Eastern Europe lived in isolated
communities, they incubated it among themselves. Entire families of
women were wiped out by breast cancer, and no one knew why as they
buried their dead.

Even
though the 14 million Jews of the world today have scattered and
intermarried, the BRCA mutation still disproportionately affects
Ashkenazi Jews.

Jewish
organizations have done too little about BRCA. Hadassah, one of the
largest and oldest Jewish women’s groups, has supported research on
BRCA, but so much for that. In April, its president, Marcie Natan,
released a statement titled “Testing Is Not for Everyone.”

“The
test sounds simple enough,” she said, “but understanding what to do
with the results can be a complicated, gut-wrenching journey.” Yes, it
can. But not nearly so much as cancer.

As
Dr. Port said on National Public Radio this week, however early a
BRCA-related breast cancer is detected, it is “associated with the risk
of death.”

If you have the BRCA mutation, you want to know.

I
wish I had done what I did anyway, except without the whole cancer
part. I am not sure why anyone with the BRCA mutation would not opt for a
prophylactic mastectomy.

Breast
cancer is considered especially sensitive because it involves breasts,
which are special. I loved my breasts: I posed topless on the cover of
my book “Bitch: In Praise of Difficult Women,” so I must have. But I
love the new breasts I have now more. I had nipple-preserving surgery,
which is often a possibility. My new breasts are more real than real.

I recovered from drug addiction in 1998, and that will teach you to take any disaster as a day in the life. But now I live in the atmosphere of cancer.

According
to the PET scan, I am cancer free. I am cured. But cancer plays hide
and seek in wunderkind ways. It is the sparkle of dirt at the bottom of
the dustbin that never gets tossed.

But
I live in an age of miracles and wonders, when they cure cancer with
viruses. If I ever meet cancer again, I will figure it out. You see, I
am very Jewish, which is to say, I am Jewish: I am undefeated by the
worst.

But I would have preferred to skip this. That would have been much better.

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